Knorr Christoph, Täubert Helge, Peters Ulrike, Brenig Bertram
Institute of Veterinary Medicine, Georg-August University of Goettingen, Goettingen, Germany.
Biochem Genet. 2004 Feb;42(1-2):11-9. doi: 10.1023/b:bigi.0000012140.41292.a9.
The INSL3 gene encoding Leydig cell insulin-like hormone is an important candidate gene for congenital disorders of the reproductive tract in pigs. Comparative sequencing using phenotypically hernia inguinalis affected and unaffected animals showed that the porcine gene is remarkably conserved. No polymorphisms were found in the two exons or in the intron. Two single-nucleotide polymorphisms (SNPs) were detected in the promoter region (G-224A and A-164C) of the sequenced pigs and fast screening methods were developed for large scale studies. Some significant breed differences exist for allele frequencies at both SNPs in the INSL3 gene. Screening of the two SNPs in a population of hernia inguinalis affected full and half sib piglets (n = 223) revealed that the SNPs can be excluded as a common genetic basis for this congenital disorder in this pedigree.
编码莱迪希细胞胰岛素样激素的INSL3基因是猪先天性生殖道疾病的重要候选基因。对腹股沟疝表型受影响和未受影响的动物进行比较测序表明，猪的该基因非常保守。在两个外显子或内含子中未发现多态性。在测序猪的启动子区域（G-224A和A-164C）检测到两个单核苷酸多态性（SNP），并开发了用于大规模研究的快速筛选方法。INSL3基因中两个SNP的等位基因频率存在一些显著的品种差异。在一群腹股沟疝受影响的全同胞和半同胞仔猪（n = 223）中对这两个SNP进行筛选，结果表明在这个家系中，这些SNP可被排除作为这种先天性疾病的常见遗传基础。
